Clinical, electrophysiological and pathological findings in a patient with Charcot-Marie-Tooth disease 4D caused by the NDRG1 Lom mutation

Eugenio Maria Mercuri, Mario Sabatelli, Marco Luigetti, Alessandra Del Grande, Angela Romano, Giulia Bisogni, Amelia Conte, Ilaria Contaldo, Franco Taroni, Micaela Milani

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

No abstract
Original languageEnglish
Pages (from-to)271-273
Number of pages3
JournalJournal of the Neurological Sciences
Volume345
DOIs
Publication statusPublished - 2014

Keywords

  • Brain
  • CMT4D
  • Cell Cycle Proteins
  • Charcot-Marie-Tooth Disease
  • Charcot–Marie–Tooth
  • Electromyography
  • Female
  • Humans
  • Intracellular Signaling Peptides and Proteins
  • Lom type
  • Magnetic Resonance Imaging
  • Mutation
  • NDRG1
  • Nerve biopsy
  • Neural Conduction
  • Sural Nerve
  • Young Adult

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